Gene: ABCA4 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Disease variants in genomes of 44 centenarians. 25333069

2014
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 11919200

2002
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Stargardt disease: towards developing a model to predict phenotype. 23695285

2013
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887

2012
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662

2014
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation. 12192456

2002
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR A map of human genome variation from population-scale sequencing. 20981092

2010
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4. 23144455

2012
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903

2009
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612

2014
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. 25712131

2015
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. 15579991

2004
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Stargardt disease caused by a rare combination of double homozygous mutations. 24509150

2013
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. 28118664

2017
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 9466990

1998
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129

2005
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458

2009
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene. 22312191

2012
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. 28118664

2017
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR A patient with STGD caused by the homozygous p.Arg1129Leu mutation in the ABCA4 gene was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. 17277736

2007
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 CausalMutation CLINVAR